Association between single-nucleotide polymorphisms in endochondral development-related genes and 3D phenotypic variation of the cranial base.

IF 3 2区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Head & Face Medicine Pub Date : 2026-07-21 DOI:10.1186/s13005-026-00644-8

Guido Artemio Marañón-Vásquez, Mônica Tirre de Souza Araújo, Antônio Carlos de Oliveira Ruellas, Mírian Aiko Nakane Matsumoto, Alejandro David Avalos Chávez, Marcio Figueiredo, Thaís de Oliveira Fernandes, Lívia Azeredo Alves Antunes, Manuel Lagravère Vich, Rafaela Scariot, Carlos Flores-Mir, Christian Kirschneck, Leonardo Dos Santos Antunes, Erika Calvano Küchler

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引用次数: 0

Abstract

Background: This study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) in endochondral development-related genes and cranial base 3D phenotypes.

Methods: CBCT scans and the genomic DNA of 118 individuals were evaluated (age range: 15-66 years; 82 females). Data from eleven 3D landmarks identified at the cranial base were subjected to geometric morphometric analysis, including Procrustes fit, principal component (PC) analyses, and estimation of centroid sizes and fluctuating asymmetry scores. Seven SNPs within BMP2, BMP4, RUNX2, and SMAD6 were genotyped by real-time PCR. General linear models (GLM) were fitted to assess the effect of SNPs on cranial base shape, size, and symmetry quantitative traits.

Results: Seven PCs were identified for each shape variation aspect (i.e., symmetric and asymmetric components). These explained 81.9% and 84.6% of the total variation, respectively. GLM did not evidence strong associations between cranial base shape aspects and the studied SNPs. GLM including age, sex and BMP2 rs1005464 as predictor variables, showed a strong explanatory power of the variation in the size of the cranial base (adjusted R² = 0.50). Individuals carrying at least one A allele for rs1005464 had larger cranial bases than common GG homozygotes (β = 0.015; 95% CI: 0.003, 0.027; P = 0.016). Fluctuating asymmetry scores were not associated with any of the evaluated SNPs.

Conclusions: The results suggest that BMP2 rs1005464 could be associated with variations in the cranial base size.

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软骨内发育相关基因的单核苷酸多态性与颅底三维表型变异之间的关系。

背景：本研究旨在评估软骨内发育相关基因的单核苷酸多态性（snp）与颅底3D表型之间的关系。方法：对118例患者（年龄15-66岁，女性82例）进行CBCT扫描和基因组DNA评估。在颅底识别的11个3D地标数据进行几何形态分析，包括Procrustes拟合，主成分（PC）分析，以及质心大小和波动不对称评分的估计。采用实时荧光定量PCR对BMP2、BMP4、RUNX2和SMAD6中的7个snp进行基因分型。采用一般线性模型（GLM）评估snp对颅底形状、大小和对称性数量性状的影响。结果：每个形状变化方面（即对称和不对称成分）鉴定出7个pc。这些分别解释了总变异的81.9%和84.6%。GLM没有证据表明颅底形状方面和研究的snp之间有很强的联系。GLM包括年龄、性别和BMP2 rs1005464作为预测变量，对颅底大小的变化有很强的解释力（调整后的R2 = 0.50）。携带rs1005464至少一个A等位基因的个体比普通GG纯合子具有更大的颅底（β = 0.015; 95% CI: 0.003, 0.027; P = 0.016）。波动不对称评分与任何评估的snp无关。结论：BMP2 rs1005464可能与颅底大小的变化有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Head & Face Medicine DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

4.70

自引率

3.30%

发文量

审稿时长

>12 weeks

期刊介绍： Head & Face Medicine is a multidisciplinary open access journal that publishes basic and clinical research concerning all aspects of cranial, facial and oral conditions. The journal covers all aspects of cranial, facial and oral diseases and their management. It has been designed as a multidisciplinary journal for clinicians and researchers involved in the diagnostic and therapeutic aspects of diseases which affect the human head and face. The journal is wide-ranging, covering the development, aetiology, epidemiology and therapy of head and face diseases to the basic science that underlies these diseases. Management of head and face diseases includes all aspects of surgical and non-surgical treatments including psychopharmacological therapies.